Canonical Allele Identifier: CA394706250

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1308025
• ClinVar RCV Id: RCV001772880
• dbSNP Id: rs2141127318
• gnomAD v4: 16-9763511-G-A
• MyVariant Identifiers: chr16:g.9857368G>A (hg19) ; chr16:g.9763511G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763511G>A , CM000678.2:g.9763511G>A	GRCh38
NC_000016.9:g.9857368G>A , CM000678.1:g.9857368G>A	GRCh37
NC_000016.8:g.9764869G>A	NCBI36
NG_011812.1:g.424244C>T
NG_011812.2:g.424244C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.4033C>T MANE Select	ENSP00000332549.3:p.Pro1345Ser
ENST00000535259.6:c.3302-83C>T	ENSP00000441572.3:n.3302-83C>T
ENST00000636273.2:n.3366-83C>T
ENST00000674742.1:c.3562C>T	ENSP00000502200.1:p.Pro1188Ser
ENST00000675398.1:c.*1403C>T	ENSP00000502752.1:n.*1403C>T
ENST00000330684.3:c.4033C>T	ENSP00000332549.3:p.Pro1345Ser
ENST00000396573.6:c.4033C>T	ENSP00000379818.2:p.Pro1345Ser
ENST00000396575.6:c.3622C>T	ENSP00000379820.3:p.Pro1208Ser
ENST00000461292.3:n.3412-83C>T
ENST00000535259.5:c.3362-83C>T	ENSP00000441572.2:n.3362-83C>T
ENST00000562109.5:c.3773-83C>T	ENSP00000454998.1:n.3773-83C>T
NM_000833.4:c.4033C>T	NP_000824.1:p.Pro1345Ser
NM_001134407.2:c.4033C>T	NP_001127879.1:p.Pro1345Ser
NM_001134408.2:c.3773-83C>T	NP_001127880.1:n.3773-83C>T
XM_011522456.1:c.3874C>T	XP_011520758.1:p.Pro1292Ser
XM_011522457.1:c.3775C>T	XP_011520759.1:p.Pro1259Ser
XM_011522458.1:c.3562C>T	XP_011520760.1:p.Pro1188Ser
XM_011522459.1:c.3562C>T	XP_011520761.1:p.Pro1188Ser
XM_011522460.1:c.3562C>T	XP_011520762.1:p.Pro1188Ser
XM_011522461.1:c.3773-83C>T	XP_011520763.1:n.3773-83C>T
XM_011522458.3:c.3562C>T	XP_011520760.1:p.Pro1188Ser
XM_011522461.3:c.3773-83C>T	XP_011520763.1:n.3773-83C>T
XM_017023172.1:c.4189C>T	XP_016878661.1:p.Pro1397Ser
XM_017023173.1:c.3929-83C>T	XP_016878662.1:n.3929-83C>T
NM_001134407.3:c.4033C>T MANE Select	NP_001127879.1:p.Pro1345Ser
NM_000833.5:c.4033C>T	NP_000824.1:p.Pro1345Ser